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CYTO (2nd-3rd Shifting) > UNIT 6 - GENETIC MUTATIONS > Flashcards

UNIT 6 - GENETIC MUTATIONS Flashcards

1
Q

Gene Mutation or Chromosomal Mutation

A single gene is affected

A

Gene Mutation

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2
Q

Gene Mutation or Chromosomal Mutation

Several genes are affected

A

Chromosomal Mutation

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3
Q

Gene Mutation or Chromosomal Mutation

Alteration of the nucleotide sequence

A

Gene Mutation

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4
Q

Gene Mutation or Chromosomal Mutation

Alterations in the chromosome structure or number

A

Chromosomal Mutation

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5
Q

Gene Mutation or Chromosomal Mutation

Caused by errors in DNA ____ and mutagens

A

Gene Mutation

Replication

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6
Q

Gene Mutation or Chromosomal Mutation

Caused by errors in crossing over during meiosis

A

Chromosomal Mutation

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7
Q

A gene variant present in more than one percent of a population

A

Polymorphism

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8
Q

True or False

A mutation is not always a change from wild type

A

True

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9
Q

Which of the following statements is true about mutations?

A. They can produce new alleles of existing genes.
B. They can be inherited if they are in somatic cells.
C. They are never as simple as an error in a single codon in a DNA molecule.
D. A and B

A

A

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10
Q

True or False

Genetic Polymorphism is not associated with any disease

A

True

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11
Q

Variants in other
genes that counteract the loss of function

Made to silence or kill the expression of a specific gene

A

Knockouts

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12
Q

A ____ is any heritable change in the amount or structure of genetic material

A

Mutation

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13
Q

True or False

Natural selection does affects the alleles that bring polymorphism

A

False

Natural selection does not affect the alleles that bring polymorphism

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14
Q

Polymorphism or Mutation

A permanent alteration of a nucleotide sequence of a gene

A

Mutation

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15
Q

True or False

In polymorphism, a single base pair exchange is called a point mutation

A

False

Mutation, not polymorphism

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16
Q

True or False

In polymorphism, a single base pair exchange in the nucleotide sequence is called a ____ ____ ____

A

Single Nucleotide Polymorphism

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17
Q

Classification of mutations can be based on all, except:

A. Origin
B. Cell Type
C. Expression
D. Effect on Function
E. Molecular Change
F. None of the above

A

F. None of the above

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18
Q

True or False

There is a direct relationship between the mutation rate and the size of a genome

A

False

Inverse relationship

The larger the genome, the smaller the mutation rate

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19
Q

True or False

A large population of certain species means there will be high mutation rates

A

False

Mutation rates are inversely proportional to population sizes of species

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20
Q

The ____ of DNA polymerase involves its ability to correct changes in the DNA and the accuracy with which the DNA sequence is copied

A

Fidelity

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21
Q

Based on Origin

Occurs in the absence of a known mutagen

Mutations based on origin

A

Spontaneous

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22
Q

Based on Origin

Occurs in the presence of a known mutagen

Mutations based on origin

A

Induced

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23
Q

Spontaneous mutations are similar to (endogenous, exogenous) mutations

Mutations based on origin

A

Endogenous

Having an internal cause or origin

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24
Q

E____ refers to the random accumulation of deleterious mutations

Mutations based on origin

A

Entropy

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25
Q

This mutagen causes congenital malformations; affects pluripotent stem cells

Mutations based on origin

A

Teratogens

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26
Q

This mutagen causes tumor formation; involves cancer-causing agents

Mutations based on origin

A

Carcinogens

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27
Q

This mutagen causes chromosomal abnormalities or breaks in chromosomes that result in the gain, loss, or rearrangements of chromosomal segments

Mutations based on origin

A

Clastogens

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28
Q

This mutagen causes DNA damage

Mutations based on origin

A

Non-specific

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29
Q

Physical, Chemical, or Biological Mutagens?

Ionizing radiations, Non-ionizing radiations, Heat

Mutations based on origin

A

Physical mutagens

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30
Q

Physical, Chemical, or Biological Mutagens?

Alkylating agents, Deaminating agents, Intercalating agents

Mutations based on origin

A

Chemical mutagens

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31
Q

Physical, Chemical, or Biological Mutagens?

Biological agents, Biological infectious agents

Mutations based on origin

A

Biological mutagens

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32
Q

Viruses, Bacteria, and Transponons are under what class of mutagens?

Mutations based on origin

A

Biological mutagens

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33
Q

Natural elements of DNA that jump from one place to another within a genome

Also called “jumping genes”

A

Transponons

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34
Q

Exogenous or Endogenous

UV-Light

Mutations based on origin

A

Exogenous

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35
Q

Exogenous or Endogenous

Smoking

Mutations based on origin

A

Exogenous

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36
Q

Exogenous or Endogenous

Spontaneous or enzymating DNA base modifications

Mutations based on origin

A

Endogenous

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37
Q

Exogenous or Endogenous

DNA replication errors

Mutations based on origin

A

Endogenous

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38
Q

True or False

Reactive oxygen species are both exogenous and endogenous sources of mutation

Mutations based on origin

A

True

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39
Q

Dipyrimidine photoproducts (CPD, 6-4PP) are caused by

Mutations based on origin

A

UV-light

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40
Q

Bulky DNA adducts at guanines (BPDE-dG) are caused by

Mutations based on origin

A

Smoking

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41
Q

A pair of abnormally chemically bonded adjacent thymine Bases in DNA, resulting from damage by ultra-violet irradiation

Mutations based on origin

A

Thymine dimers

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42
Q

DNA repair enzymes that repair damage caused by exposure to ultraviolet light

Mutations based on origin

A

Photolyases

Not present in humans

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43
Q

A rapid, transient, production of huge amounts of reactive oxygen species; acts as a defence mechanism to pathogen infection in plants

Mutations based on origin

A

Oxidative burst

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44
Q

Mechanisms of repair for DNA replication errors

Mutations based on origin

A

Nucleotide excision repair
Base incision repair
Mismatch repair

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45
Q

Three Types of Chemical Mutagens

Mutations based on origin

A

Base analogs
Base altering agents
Intercalating agents

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46
Q

Types of base altering agents in chemical mutagens

Mutations based on origin

A

Deaminating agents
Hydroxylating agents
Alkylating agents

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47
Q

Type of mutation that occurs in nonreproductive cells

Mutations based on cell type

A

Somatic

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48
Q

Mutations can be caused by all of the following except:

A. radiation
B. some chemicals
C. incest
D. some microorganisms
E. none of the above

Mutations based on origin

A

C. incest

Incest does not increase the likelihood of mutations occurring

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49
Q

In order for a mutation to be selected for or against by natural selection, it must:

A. be a gross chromosomal rearrangement or an irregular number of chromosomes
B. occur in the genotype
C. be expressed in the phenotype

A

C. be expressed in the phenotype

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50
Q

The following are true for somatic mutation, except:

A. Happens during DNA replication before mitosis
B. Passed to the next generation of cells
C. Passed to all the cells in the individual’s body
D. All the cells that descend from the original changed cell are altered, but they might only comprise a small part of the body

Mutations based on cell type

A

C

Somatic mutations are not passed to all cells in the body

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51
Q

True or False

A person with somatic mutations will have mosaicism

Mutations based on cell type

A

True

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52
Q

True or False

Most expression of germline mutations is in the form of cancer

Mutations based on cell type

A

False

Somatic mutations, not germline

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53
Q

In this mutation, only one area/organ of the body is usually affected

Mutations based on cell type

A

Somatic mutation

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54
Q

This type of mutation occurs in reproductive cells and can be inherited

Mutations based on cell type

A

Germline mutations

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55
Q

True or False

In germline mutations, the resulting gamete and all the cells that descend from it after fertilization have the mutation—that is, every cell in the body

Mutations based on cell type

A

True

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56
Q

Which germ cell is more commonly related to de novo mutations?

Mutations based on cell type

A

Sperm cells

57
Q

True or False

Egg cells are associated with aneuploidy rather than mutations

Mutations based on cell type

A

True

58
Q

A mutation that is expressed only under restrictive conditions

Expressed only under certain conditions

Mutations based on expression

A

Conditional

59
Q

In unconditional mutations, the effect of mutation can be turned on or off by the experimenter

Mutations based on expression

A

False

Unconditional mutations are expressed all of the time; Conditional dapat

60
Q

A mutation that is expressed under permissive conditions as well as restrictive conditions

Mutations based on expression

A

Unconditional

61
Q

Example of unconditional mutations

Mutations based on expression

A

Hemophilia
Sickle cells

62
Q

Loss of function mutations are also called A____

Mutations based on effect on function

A

Amorphic

63
Q

This type of mutation results in complete gene inactivation or in a completely nonfunctional gene product; eliminates normal function

Mutations based on effect on function

A

Loss of function/Amorphic

64
Q

This type of mutation reduces normal function, but does not eliminate the level of expression of a gene or the activity of the gene product

Mutations based on effect on function

A

Hypomorphic (Leaky mutation)

65
Q

True or False

Leaky mutations show up in both restrictive and permissive conditions

Mutations based on effect on function

A

False

Restrictive only

66
Q

This type of mutation increases normal function and produces a greater-than-normal level of gene expression

Mutations based on effect on function

A

Hypermorphic

67
Q

This type of mutation changes the regulation of the gene so that the gene product is overproduced

Mutations based on effect on function

A

Hypermorphic

68
Q

Neomorph mutation is also called ____ expression

Mutations based on effect on function

A

Ectopic

69
Q

This type of mutation results in a new function – expressed at an incorrect time or in an inappropriate cell

Mutations based on effect on function

A

Neomorph

70
Q

True or False

Neomorphic mutations quantitatively alters the action of a gene

Mutations based on effect on function

A

False

Qualitative, not quantitative

71
Q

This type of mutation causes a gene to become active in a type of cell or tissue in which the gene is not normally active

Mutations based on effect on function

A

Neomorph

72
Q

This type of mutation involves a mutant gene product which interferes with normal gene product

Mutations based on effect on function

A

Antimorphic

73
Q

Gain or loss of function?

Antimorphic mutations

Mutations based on effect on function

A

Loss of function

74
Q

Gain or loss of function?

Neomorphic mutations

Mutations based on effect on function

A

Gain of function

75
Q

Gain or loss of function?

Hypermorphic mutations

Mutations based on effect on function

A

Gain of function

76
Q

Gain or loss of function?

Hypomorphic/Leaky mutations

Mutations based on effect on function

A

Loss of function

77
Q

Recessive mutations are usually a ____ of function

Mutations based on effect on function

A

Loss

78
Q

What are the types of mutations based on molecular change?

Mutations based on molecular change

A

Substitutions
Deletions
Insertions
Duplications
Inversions
Translocations

79
Q

This type of mutation involves the replacement of a single nucleotide by another

Mutations based on molecular change

A

Substitutions

80
Q

Transition or Transversion

Replacement by the same type of nucleotide

Mutations based on molecular change

A

Transition

81
Q

Transition or Transversion

Pyrimidine to Purine
Purine to Pyrimidine

Mutations based on molecular change

A

Transversion

82
Q

Which transition is more frequent?
Pyrimidine to Pyrimidine or Purine to Purine?

Mutations based on molecular change

A

Pyrimidine to Pyrimidine

Due to CpG dinucleotides

83
Q

Short stretches of DNA with an unusually high GC content and a higher frequency of CpG dinucleotides

Mutations based on molecular change

A

CpG islands

84
Q

Which is worse?
Transitions or Transversions?

Mutations based on molecular change

A

Transversions

85
Q

True or False

There is one possibility in transversions

Mutations based on molecular change

A

False

There are two possible transversions

86
Q

What charactersitic of the genetic code saves the amino acid sequence from transitions?

Mutations based on molecular change

A

Degeneracy or Wobble

87
Q

This type of mutation involves the loss of one or more nucleotides

Mutations based on molecular change

A

Deletions

88
Q

Patterns of deletion

Mutations based on molecular change

A

Multiple of 3 nucleotides (codon)
Not multiple of 3
Large deletion

89
Q

This type of deletion pattern arises through unequal crossover between repeat sequences

Mutations based on molecular change

A

Large deletion

90
Q

True or False

Large deletion results in improper pairing during meiosis

Mutations based on molecular change

A

True

91
Q

Which likely results in a frameshift mutation?

Indels with a multiple of 3 or not a multiple of 3

Mutations based on molecular change

A

Not a multiple of 3

92
Q

Classical or Molecular Genetics

Point mutations are refered to as any mutation small enough to be unobservable under a light microscope

Mutations based on molecular change

A

Classical Genetics

93
Q

Classical or Molecular Genetics

Point mutations are refered to as a single base-pair mutations

Mutations based on molecular change

A

Molecular Genetics

94
Q

A one-base change in the sequence of one side that merits a change on the base of the complementary sequence

Mutations based on molecular change

A

Point mutation

95
Q

Cystic fibrosis is an example of what type of mutation?

Mutations based on molecular change

A

Three-base deletion

96
Q

What amino acid is missing in cystic fibrosis?

Mutations based on molecular change

A

amino acid 508 (phenylalanine)

97
Q

What is the role of phenylalanine in protein synthesis?

Mutations based on molecular change

A

Contributes to the structural framework and functionality of proteins by forming peptide bonds during translation

98
Q

This type of mutation involves the addition of one or more nucleotides into a gene

Mutations based on molecular change

A

Insertion

99
Q

Amplification of a sequence of three nucleotides, which prevents normal expression of the gene

Mutations based on molecular change

A

Trinucleotide Repeat Expansion (TNR)

100
Q

What disease is caused by expansion of trinucleotide repeats?

Mutations based on molecular change

A

Huntington’s Disease

101
Q

True or False

Trinucleotide Repeat Expansions do not actually code for proteins, they just prolong the portion of the gene

Mutations based on molecular change

A

True

102
Q

Trinucleotide Repeat Expansion disorder involving CGG repeats

Mutations based on molecular change

A

Fragile X Syndrome

103
Q

Trinucleotide Repeat Expansion disorder involving CAG repeats

Mutations based on molecular change

A

Huntington Disease

104
Q

Trinucleotide Repeat Expansion disorder involving CTG repeats

Mutations based on molecular change

A

Myotonic dystrophy

105
Q

Trinucleotide Repeat Expansion disorder involving GAA repeats

Mutations based on molecular change

A

Friedreich ataxia

106
Q

What gene is affected in Fragile X syndrome?

Mutations based on molecular change

A

FMR1 gene

107
Q

What gene is affected in Huntington’s Disease?

Mutations based on molecular change

A

HTT gene

108
Q

What gene is affected in Myotonic dystrophy?

Mutations based on molecular change

A

DMPK gene

109
Q

What gene is affected in Friedreich ataxia?

Mutations based on molecular change

A

FXN1 gene

110
Q

Fragile X Syndrome Mutation

30 CGG permutations

Mutations based on molecular change

A

Wild-type allele

111
Q

Fragile X Syndrome Mutation

50-200 CGG permutations

Mutations based on molecular change

A

Premutation

112
Q

Fragile X Syndrome Mutation

> 230 CGG permutations

Mutations based on molecular change

A

Mutant allele

113
Q

Synonymous or Nonsynonymous Mutations

Silent mutations are classified as

Mutations based on their effect on protein products

A

Synonymous Mutations

114
Q

Types of Nonsynonymous Mutations

Mutations based on their effect on protein products

A

Missense mutations
Nonsense mutations
Frameshift mutations

115
Q

True or False

Synonymous mutations do not alter the polypeptide product of the gene

Mutations based on their effect on protein products

A

True

No effect on the protein sequence

116
Q

This nonsynonymous mutation involves base-pair substitutions that produce a change in a single amino acid

Mutations based on their effect on protein products

A

Missense mutations

117
Q

Missense, Nonsense, or Frameshift?

Nonpolar amino acid is replaced with a polar amino acid

Mutations based on their effect on protein products

A

Missense

118
Q

A type of missense mutation that results in the substitution of similar but not identical amino acids

Same functional group

Mutations based on their effect on protein products

A

Conservative Missense Mutation

119
Q

A type of missense mutation where the alteration in nucleotide causes the formation of a completely different kind of amino acid in the chain

Mutations based on their effect on protein products

A

Non-conservative Missense Mutation

120
Q

True or False

Sickle cell anemia is an example of a missense mutation

Mutations based on their effect on protein products

A

True

121
Q

What position and chain is the change of amino acids in sickle cell anemia?

Mutations based on their effect on protein products

A

Position 6, Beta chain

122
Q

Amino acid ____ ____ is replaced with ____ in sickle cell anemia

Mutations based on their effect on protein products

A

Glutamic acid, Valine

123
Q

What is the abnormal hemoglobin product of the single nucleotide substitution in sickle cell anemia?

Mutations based on their effect on protein products

A

Hemoglobin S (HbS)

124
Q

A type of nonsynonymous mutation that involves base-pair substitutions that produce a stop codon in the mRNA

Mutations based on their effect on protein products

A

Nonsense Mutations

125
Q

This type of mutation results in a premature termination of the polypeptide chain

Mutations based on their effect on protein products

A

Nonsense Mutations

126
Q

Beta-0 thalassemia is an example of what type of nonsynonymous mutation?

Mutations based on their effect on protein products

A

Nonsense Mutations

127
Q

True or False

Beta-0 thalassemia is a heterozygous phenomenon

Mutations based on their effect on protein products

A

False

Homozygous

128
Q

What amino acid is affected in Beta-0 thalassemia? What is substituted?

Mutations based on their effect on protein products

A

Glutamine (CAG), U is substituted for C (UAG)

129
Q

Transition or Transversion

Beta-0 thalassemia

A

Transition

130
Q

Frameshift mutations are also called i____

A

indels

131
Q

A mutation that involves the insertion or deletion of nucleotides that are not a multiple of three, where the reading frame is altered

A

Frameshift mutation

132
Q

Tay-Sachs disease is what type of mutation?

A

Frameshift mutation

Four base insertion in the hexosaminidase A gene

133
Q

True or False

In frameshift mutations, the resulting amino acid sequence bears no resemblance to the normal sequence

A

True

134
Q

The O allele is a result of what type of mutation?

A

Frameshift mutation

Single-base deletion at the ABO (glycosyltransferase) locus

135
Q

A genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA

A

Splice site mutation

136
Q

Partial or Whole gene duplication or insertion

May result in premature termination with loss of function or expression

A

Partial gene duplication or insertion

137
Q

Type of mutation that involves aberrant splicing–exon skipping or intron retention

A

Splice site mutation

138
Q

DNA point mutations _____.

A. Have no effect because of the redundancy of the nucleotide code.
B. Causes an incorrect amino acid, but no change in the overall protein.
C. Always leads to a nonfunctional protein.
D. Can lead to a nonfunctional protein or can have little effect depending on the position of the mutation.
E. Lead to the formation of an alternative protein structure, but the function of the protein doesn’t change.

A

D.

CYTO (2nd-3rd Shifting) (5 decks)

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